{"id":"hum0486","version":1,"url":"https://humandbs.dbcls.jp/research/hum0486/v1","datePublished":"2024-11-29","versions":[{"version":1,"datePublished":"2024-11-29"}],"title":{"ja":"胆道閉鎖症およびアラジール症候群特異的iPS細胞を用いた胆管発生およびその障害メカニズムの解明","en":"Bile duct development and its failure mechanisms using biliary atresia and Alagille syndrome-specific iPS cells"},"summary":{"aims":{"ja":"胆道閉鎖症（biliary atresia：BA）は、乳児期早期までに肝外胆管の線維性閉塞がおこり、胆汁鬱滞から肝硬変に進展する予後不良な疾患で、その原因はいまだ不明である。BAの成因を解明し、出生前または直後から治療介入や予後予測ができれば、BA患児にとっての恩恵は大きい。しかし、BAの成因に関しては、①器官発生異常説、②ウィルス感染説、③遺伝的素因説、④母胎免疫説などがいわれ、有力な説はいまだないのが現状である。そこで、正常ヒトiPS細胞からの胆管細胞誘導系の確立し、胎児期の異常を証明することを目的とする。その系を用いて、発生中期以降の胆管形成の分子メカニズムの解明、胆管幹細胞の安定した長期培養技術、in vitro, in vivo実験による胆管樹立体構造の構築、さらに胆道閉鎖症特異的iPS細胞を利用した胆管障害過程の検討のための実験系の確立を行う。","en":"Biliary atresia (BA) is a poor prognosis disease that causes fibrotic obstruction of the extrahepatic bile ducts by early infancy and progresses from bile stagnation to cirrhosis, the cause of which is still unknown. The aim of this study is to establish a bile duct cell induction system from normal human iPS cells and to prove the abnormality during the fetal period. Using this system, we will elucidate the molecular mechanisms of bile duct formation after mid-development, establish stable long-term culture techniques for bile duct stem cells, construct bile duct tree structures through in vitro and in vivo experiments, and establish an experimental system to investigate the bile duct injury process using biliary atresia-specific iPS cells."},"methods":{"ja":"whole genome sequencing（WGS）","en":"whole genome sequencing (WGS)"},"targets":{"ja":"胆道閉鎖症（I cyst型）の患者5名から作製されたiPS細胞検体","en":"iPS cell samples generated from five patients with biliary atresia (type I cyst)"},"url":{"ja":[{"url":"https://acd.brc.riken.jp/ja/","text":"https://acd.brc.riken.jp/ja/"}],"en":[{"url":"https://acd.brc.riken.jp/en/","text":"https://acd.brc.riken.jp/en/"}]}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"胆道閉鎖症：5症例\n（日本人）","en":"5 patients with biliary atresia\n(Japanese)"},"typeOfData":{"ja":"NGS\n（WGS）","en":"NGS\n(WGS)"}},"releaseNote":{"ja":"胆道閉鎖症（I cyst型）5症例の末梢血から作製されたiPS細胞から抽出したDNAを用いたwhole genome sequencing解析データをfastqおよびcsvファイルにて提供する。","en":"DNAs extracted from iPS cells generated from five patients with biliary atresia (type I cyst) were used for the whole genome sequencing analysis. Fastq and csv files are provided."},"dataProviders":[{"name":{"ja":"林 洋平","en":"Yohei Hayashi"},"organization":{"name":{"ja":"理化学研究所 バイオリソース研究センター","en":"RIKEN BioResource Research Center"}}}],"researchProjects":[{"name":{"ja":"iPS細胞高次特性解析開発チーム","en":"iPS Cell Advanced Characterization and Development Team"},"url":{"ja":[{"url":"https://acd.brc.riken.jp/ja/","text":"https://acd.brc.riken.jp/ja/"}],"en":[{"url":"https://acd.brc.riken.jp/en/","text":"https://acd.brc.riken.jp/en/"}]}}],"grants":[],"relatedPublications":[{"title":"Generation of human induced pluripotent stem cell lines derived from patients of cystic biliary atresia","doi":"https://doi.org/10.1007/s13577-024-01147-x","datasets":["JGAD000906"]}],"datasets":["JGAD000906"],"controlledAccessUsers":[]}